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List of works by Fiorella Gurrieri

A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy

scientific article published on 18 March 2015

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

scientific article

A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes

scientific article published on 7 December 2004

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.

scientific article published in February 2005

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome

scientific article published in October 2005

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

scientific article

Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.

scientific article

Coding exons function as tissue-specific enhancers of nearby genes

scientific article

Colchicine trial in PFAPA Syndrome and MEFV-negative patients.

scientific article published on 28 September 2015

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

scientific article

Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura

scientific article published in March 2018

Defective oxytocin function: a clue to understanding the cause of autism?

scientific article

Distinct neurological disorders with ATP1A3 mutations

scientific article

Elements of morphology: standard terminology for the hands and feet

scientific article published in January 2009

Encomium: Giovanni Neri--polyhedral and down-to-earth mentor

scientific article published on 3 October 2013

Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.

scientific article

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

scientific article

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

scientific article published on 21 August 2012

Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.

scientific article published in September 2001

Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders

scientific article published in December 2008

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

scientific article

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

scientific article published on August 1994

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case

scientific article published in August 2007

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p ⬇️

scientific article published on March 20, 2013

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

scientific article

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series

scientific article published on 17 July 2015

New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia

scientific article published in October 1992

Oral–facial–digital syndromes: Review and diagnostic guidelines

article

PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism

scientific article

PFAPA syndrome as an hereditary autoinflamatory disorder.

scientific article

Recognizable facial features in patients with alternating hemiplegia of childhood

scientific article published on 17 June 2016

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

scientific article

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

scientific article

The genetics of epilepsy

scientific article published on 01 January 2001

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

scientific article

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

scientific article

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

scientific article published in January 1995

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype

scientific article

Working up autism: The practical role of medical genetics ⬇️

scientific article published on April 12, 2012

XLMR genes: update 1990.

scientific article published in February 1991

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

scientific article published on 17 July 2001

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